J. Lawrence Merritt, Author at The Cardiology Advisor - Page 2 of 2

J. Lawrence Merritt

All articles by J. Lawrence Merritt

Citrullinemia (CIT1)

At a Glance Citrullinemia, most commonly known as Citrulliemia type 1 (CIT1), is an inherited disorder of urea cycle metabolism. Urea cycle disorders are a collection of 8 enzymes involved in waste nitrogen excretion as urea including N-acetylglutamate synthase deficiency (NAGS), carbamoylphosphate synthetase (CPS1), ornithine transcarbamylase deficiency (OTC), citrin deficiency (including citrullinemia type 2, CIT2),…

Alkaptonuria

At a Glance Alkaptonuria is an inherited disorder of metabolism of the tyrosine due to a defect in the enzyme homogentisate dioxygenase (HGD). Alkaptonuria was the first inborn error of metabolism described by Sir Archibald Garrod in 1902. Alkaptonuria is inherited in an autosomal recessive manner, meaning the individual has inherited two abnormal copies of…

Canavan Disease

At a Glance Canavan disease (also known as ASPA Deficiency or N-AspartoacylaseDeficiency) is an inherited disorder of metabolism of the amino acidaspartic acid due to a defect in aspartocyclase leading to elevations ofN-acetylaspartic acid (NAA). Canavan disease is a severe, progressive,irreversible neurological disorder and is inherited in an autosomal recessive manner. Autosomal recessive inheritance means…

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